R2024P (p.Arg2024Pro) variant of MYO7A (Unconventional myosin-VIIa)
R2024P (p.Arg2024Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R2024P (p.Arg2024Pro) variant details
- p.Arg2024Pro
- rs770778096
- ClinGen CA381935528
- ClinVar RCV001526727
- ClinVar RCV001873715
- Pathogenic/Likely pathogenic
- Usher syndrome type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)